Brazilian Position Statement for Familial Chylomicronemia Syndrome – 2023

1. Cover Letter

Familial chylomicronemia syndrome (FCS) is a severe form of dyslipidemia characterized by multiple signs and symptoms associated with a deficiency in lipoprotein lipase or one of its cofactors, leading to compromised triglyceride metabolism. FCS has an autosomal recessive pattern of inheritance and affects approximately 1 to 2 people per million, but it may be more frequent in consanguineous relationships. Knowledge of this condition is still limited, often contributing to delayed diagnosis when complications have already set in. Patients with FCS may have recurrent abdominal pain, episodes of pancreatitis, eruptive xanthomas, lipemia retinalis , hepatosplenomegaly, and a milky appearance of serum.

In classic, severe forms, clinical symptoms are present at birth or even in childhood, but they may manifest at any age, especially in carriers of new mutations. Patients with FCS usually see several specialists before a diagnosis is made. The clinical presentation of FCS may also be indistinguishable from that of multifactorial chylomicronemia syndrome, which is more common and also has a genetic basis, although it is influenced by environmental and lifestyle factors. In addition, multifactorial chylomicronemia syndrome may result from conditions such as hypothyroidism, uncontrolled diabetes, kidney disease, alcohol abuse, and use of certain medications, which makes its diagnosis even more difficult.

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